Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol: Sh3pxd2bnee Name: SH3 and PX domains 2B; nose eyes ear MGI ID: MGI:3689328 Gene: Sh3pxd2b  Location: Chr11:32297820-32378173 bp, + strand  Genetic Position: Chr11, 18.89 cM Alliance: Sh3pxd2bnee page

Abnormal growth, craniofacial, and ocular phenotypes in Sh3pxd2bnee/Sh3pxd2bnee mice Show the 4 phenotype image(s) involving this allele.

Strain of Origin:

B10.A-H2h4/(4R)SgDvEgJ

Allele Type:    Spontaneous Mutation:    Intragenic deletion   Mutation details: A spontaneous mutation removes the A nucleotide at position 1220 (c.1220delA) in tyrosine codon 407. This mutation leads to a frame shift altering 37 amino acid before resulting in a premature stop codon and truncation of the protein product to 443 amino acids compared to the full-length 908 amino acids. The truncated protein lacks the fourth SH3 domain. (J:153369)

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	1 assay results
In Structures Affected by this Mutation:	14 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Sh3pxd2b Mutation:	38 strains or lines available

Original:	J:153369 Mao M, et al., The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development. Mamm Genome. 2009 Aug;20(8):462-75
All:	6 reference(s)